المؤلفون: Gazquez, Loic

المساهمون: Swanton, Eileithyia

مصطلحات موضوعية: Nesprins, SUN2, nuclear envelope, EOTD, Early Onset Torsion Dystonia, deltavision, LULL1, microscopy, LINC, nuclear envelopathies, SUN1, KASH, FRAP, SUN, LAP1, TorsinA, mass spectrometry, mitosis, proximity labelling, BioID, LINC complex, Nesprin-2, mobility

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.771417

المؤلفون: Richter, Franziska, Bauer, Anne, Perl, Stefanie, Schulz, Anja, Richter, Angelika

مصطلحات موضوعية: article, Verzeichnis wissenschaftlicher Veröffentlichungen, ddc:630, Hochschulbibliographie allgemein, Animals, Mice, Inbred C57BL, Transgenic, Acetylcholinesterase, Substance P, Proto-Oncogene Proteins c-fos, Molecular Chaperones, Behavior, Animal, Light, Female, Male, Gene Knock-In Techniques, Endophenotypes, Cholinergic Neurons, Optogenetics, Channelrhodopsins, c-fos, Movement Disorder, Cholinergic Interneurons, Torsion Dystonia

Time: 2019

Relation: EBioMedicine -- 2799017-5 -- 2352-3964 -- https://www.thelancet.com/journals/ebiom/home -- https://www.ncbi.nlm.nih.gov/pmc/journals/2749/ -- http://ezb.uni-regensburg.de/ezeit/detail.phtml?bibid=TIHO&colors=7&lang=de&jour_id=221833; https://doi.org/10.1016/j.ebiom.2019.02.042; https://elib.tiho-hannover.de/receive/tiho_mods_00000933; https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00000433/1-s2.0-S2352396419301203-main.pdf; https://europepmc.org/articles/PMC6444071; http://www.ebiomedicine.com/article/S2352396419301203/pdf

الاتاحة: https://doi.org/10.1016/j.ebiom.2019.02.042
https://elib.tiho-hannover.de/receive/tiho_mods_00000933
https://elib.tiho-hannover.de/servlets/MCRFileNodeServlet/tiho_derivate_00000433/1-s2.0-S2352396419301203-main.pdf
https://europepmc.org/articles/PMC6444071
http://www.ebiomedicine.com/article/S2352396419301203/pdf

المؤلفون: POVEY, S, SMITH, M, HAINES, J, KWIATKOWSKI, D, FOUNTAIN, J, BALE, A, ABBOTT, C, JACKSON, I, LAWRIE, M, HULTÉN, M

المصدر: Annals of Human Genetics. 56(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA, Single-Stranded, Genetic Linkage, Humans, Mice, Molecular Sequence Data, Tuberous Sclerosis, chromosomal localization, chromosome 9, chromosome 9p, chromosome 9q, chromosome analysis, chromosome map, conference paper, friedreich ataxia, gene, gene mapping, genetic linkage, genetic polymorphism, human, major clinical study, normal human, priority journal, pulsed field gel electrophoresis, telomere, torsion dystonia, tuberous sclerosis, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5k97g95t
https://escholarship.org/content/qt5k97g95t/qt5k97g95t.pdf

المؤلفون: Povey, S, Smith, M, Haines, J, Kwiatkowski, D, Fountain, J, Bale, A, Abbott, C, Jackson, I, Lawrie, M, Hultén, M

المصدر: Annals of human genetics. 56(3)

مصطلحات موضوعية: Chromosomes, Human, Pair 9, Animals, Humans, Mice, Tuberous Sclerosis, DNA, Single-Stranded, Chromosome Mapping, Base Sequence, Molecular Sequence Data, Genetic Linkage, chromosomal localization, chromosome 9, chromosome 9p, chromosome 9q, chromosome analysis, chromosome map, conference paper, friedreich ataxia, gene, gene mapping, genetic linkage, genetic polymorphism, human, major clinical study, normal human, priority journal, pulsed field gel electrophoresis, telomere, torsion dystonia, tuberous sclerosis, Genetics & Heredity, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5k97g95t

المؤلفون: K. A. Ostapchuk, S. V. Kotov, O. P. Sidorova, A. V. Polyakov, N. M. Galeeva, V. K. Misikov

المصدر: Alʹmanah Kliničeskoj Mediciny, Vol 0, Iss 39, Pp 111-114 (2016)

مصطلحات موضوعية: dystonia, torsion dystonia, cervical dystonia, mutation, dyt1, polymorphism., Medicine

وصف الملف: electronic resource

Relation: https://www.almclinmed.ru/jour/article/view/237; https://doaj.org/toc/2072-0505; https://doaj.org/toc/2587-9294

URL الوصول: https://doaj.org/article/4305cc1ff2334c618dfac164c9c09a14

المؤلفون: Kurt A. Jellinger

المصدر: Journal of Neural Transmission. 129:521-543

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Movement disorders, business.industry, Neurodegeneration with brain iron accumulation, Parkinsonism, Neuroferritinopathy, medicine.disease, Progressive supranuclear palsy, Torsion dystonia, Psychiatry and Mental health, Neurology, Extrapyramidal disorder, Medicine, Corticobasal degeneration, Neurology (clinical), medicine.symptom, business, Biological Psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6121cda343778e1e231e8b1bb210eb48
https://doi.org/10.1007/s00702-021-02392-2

المؤلفون: Verbeek, Dineke S., Gasser, Thomas

المصدر: Verbeek , D S & Gasser , T 2017 , ' Unmet Needs in Dystonia : Genetics and Molecular Biology-How Many Dystonias? ' , Frontiers in Neurology , vol. 7 , 241 . https://doi.org/10.3389/fneur.2016.00241

مصطلحات موضوعية: dystonia, genetics, GWAS, whole-exome sequencing, variant validation, GENOME-WIDE ASSOCIATION, DOPA-RESPONSIVE PARKINSONISM, MYOCLONUS-DYSTONIA, CERVICAL DYSTONIA, TORSION DYSTONIA, HUMAN-DISEASE, RISK LOCI, MUTATIONS, VARIANTS, PHENOTYPE

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/e1b1cf47-4a88-4508-b7be-8198b2b57574

الاتاحة: https://hdl.handle.net/11370/e1b1cf47-4a88-4508-b7be-8198b2b57574
https://research.rug.nl/en/publications/e1b1cf47-4a88-4508-b7be-8198b2b57574
https://doi.org/10.3389/fneur.2016.00241
https://pure.rug.nl/ws/files/39744242/Unmet_Needs_in_Dystonia_Genetics_and_Molecular_Biology.pdf

المؤلفون: Nibbeling, Esther A. R., Delnooz, Catherine C. S., de Koning, Tom J., Sinke, Richard J., Jinnah, Hyder A., Tijssen, Marina A. J., Verbeek, Dineke S.

المصدر: Nibbeling , E A R , Delnooz , C C S , de Koning , T J , Sinke , R J , Jinnah , H A , Tijssen , M A J & Verbeek , D S 2017 , ' Using the shared genetics of dystonia and ataxia to unravel their pathogenesis ' , Neuroscience and Biobehavioral Reviews , vol. 75 , pp. 22-39 . https://doi.org/10.1016/j.neubiorev.2017.01.033

مصطلحات موضوعية: Spinocerebellar ataxia, Dystonia, Gene network, Synaptic transmission, Neurodevelopment, Neurodegeneration, Molecular pathways, Pathophysiology, DOMINANT CEREBELLAR-ATAXIA, POSITIVE MYOCLONUS-DYSTONIA, WHITE-MATTER CHANGES, CULTURED HIPPOCAMPAL-NEURONS, PRIMARY CERVICAL DYSTONIA, PRIMARY TORSION DYSTONIA, POTASSIUM CHANNEL GENE, MACHADO-JOSEPH-DISEASE, CENTRAL-NERVOUS-SYSTEM, DOPAMINE D1 RECEPTOR

الاتاحة: https://hdl.handle.net/11370/52e266fb-5332-417d-aabd-99c33b17108c
https://research.rug.nl/en/publications/52e266fb-5332-417d-aabd-99c33b17108c
https://doi.org/10.1016/j.neubiorev.2017.01.033
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC5921080&blobtype=pdf

المؤلفون: M. A. Akhkyamova, V. Gusev, Olga Lvova, N. A. Belykh

المصدر: Bulletin of Russian State Medical University

مصطلحات موضوعية: Dopa-Responsive Dystonia, CARBIDOPA, MUSCLE FATIGUE, PATHOGENESIS, POLYMERASE CHAIN REACTION, HEREDITARY DYSTONIA, CLINICAL FEATURE, DOPAMINE, 0302 clinical medicine, Medicine, BRAIN ATROPHY, MUSCLE SPASM, 030212 general & internal medicine, LIVER PROTECTIVE AGENT, ARM WEAKNESS, HUMAN, TIZANIDINE, WALKING DIFFICULTY, General Medicine, VASODILATOR AGENT, FEMALE, SEGAWA SYNDROME, ELECTRONEUROGRAPHY, TORSION DYSTONIA, CUBITAL TUNNEL SYNDROME, GAIT DISORDER, MASSAGE, POLYRADICULONEUROPATHY, Hereditary Dystonia, GENETIC SCREENING, RADICULOPATHY, SINGLE NUCLEOTIDE POLYMORPHISM, medicine.medical_specialty, LEG MUSCLE, FOOT, CASE REPORT, NEUROIMAGING, CLINICAL ARTICLE, EXERCISE, HETEROZYGOTE, NUCLEAR MAGNETIC RESONANCE IMAGING, 03 medical and health sciences, ADULT, Internal medicine, GENE MUTATION, ARTICLE, GCHI GENE, INTERVERTEBRAL DISK DEGENERATION, OSTEOPHYTE, business.industry, LEVODOPA, DISABILITY, ENCEPHALOPOLYRADICULONEUROPATHY, CHOLINESTERASE INHIBITOR, PARAFFIN, PARAPLEGIA, DOPA-RESPONSIVE DYSTONIA, DRUG WITHDRAWAL, LIMB WEAKNESS, BACLOFEN, nervous system diseases, MULTIVITAMIN, Endocrinology, business, DOPA RESPONSIVE DYSTONIA, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcdc3417e3e10207e13b25ff514a908e
https://doi.org/10.24075/brsmu.2020.031

المؤلفون: N. Yu. Perunova, M. Yu. Bobylova, T. M. Prygunova

المصدر: Russkij Žurnal Detskoj Nevrologii, Vol 15, Iss 1, Pp 47-61 (2020)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, rare disease, Rett syndrome, Cerebral palsy, Torsion dystonia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, eye-of-the-tiger sign on magnetic resonance images, medicine, Ictal, levodopa, RC346-429, benign epileptiform discharges of childhood, rett syndrome with iron accumulation in the basal ganglia, hereditary degenerative basal ganglia disease, business.industry, Parkinsonism, mutation in the wdr45 gene, medicine.disease, dystonia–parkinsonism, Hypsarrhythmia, 030104 developmental biology, Pediatrics, Perinatology and Child Health, iron accumulation in the globus pallidus and substantia nigra, hereditary dementia, severe childhood epilepsy, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c4caf41c6a9ff183ddd8c8fb73359e4
https://doi.org/10.17650/2073-8803-2020-15-1-47-61

المؤلفون: Laurie J. Ozelius, Susan B. Bressman

المصدر: Neurobiology of Disease, Vol 42, Iss 2, Pp 127-135 (2011)

مصطلحات موضوعية: Primary torsion dystonia, Early onset dystonia, Focal dystonia, TOR1A, THAP1, DYT7, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996110004055; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/637964ee5aa145e4925435be1810bb8b

المؤلفون: K. Grundmann, B. Reischmann, G. Vanhoutte, J. Hübener, P. Teismann, T.-K. Hauser, M. Bonin, J. Wilbertz, S. Horn, H.P. Nguyen, M. Kuhn, S. Chanarat, H. Wolburg, A. Van der Linden, O. Riess

المصدر: Neurobiology of Disease, Vol 27, Iss 2, Pp 190-206 (2007)

مصطلحات موضوعية: Primary torsion dystonia, TorsinA, DYT1, Transgenic mouse model, Nuclear envelope, DTI-MRI, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996107000885; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/cf06dd31d4e94c3cb46c3c2c05e35184

المؤلفون: Momoko Ishikawa, André Nussenzweig, Peter J. McKinnon, Michelle E. Ehrlich, Andre Stanlie, Nancy Wong, Wei Wu, Frida Belinky, Dali Zong, Kenta Shinoda, Lavinia C. Dumitrache, Elsa Callen

مصطلحات موضوعية: Genome instability, DNA damage, Biology, medicine.disease, Double Strand Break Repair, Cell biology, Torsion dystonia, chemistry.chemical_compound, chemistry, PARP inhibitor, medicine, Homologous recombination, Gene, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7a392b928dbc5ee9661a5b3c17a52908
https://doi.org/10.1101/2020.07.19.210773

المؤلفون: Kunihiro Yoshida, Yumi Hoshino, Masashi Yamazaki, Hideo Makishita, Yusuke Mochizuki

المصدر: Rinsho shinkeigaku = Clinical neurology. 60(8)

مصطلحات موضوعية: Male, Cerebellum, Cerebellar Ataxia, Choreiform movement, Dystonia Musculorum Deformans, Neurological examination, Biperiden, Torsion dystonia, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Ataxic Gait, Dystonia, Cerebellar ataxia, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Olanzapine, Anesthesia, Schizophrenia, Cerebellar atrophy, Neurology (clinical), medicine.symptom, Atrophy, business, 030217 neurology & neurosurgery, Neck, Antipsychotic Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb514098bae09b7cc5cda765f8e17e8b
https://pubmed.ncbi.nlm.nih.gov/32641633

المؤلفون: Peng Zhu, Haisong Zhou, Yong Dai, Donge Tang, Bo Li, Jianwen Ye

مصطلحات موضوعية: Whole genome sequencing, Identification (biology), Computational biology, Biology, Primary torsion dystonia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7ede306619da9c496d2ecc9a27553682
https://doi.org/10.21203/rs.3.rs-30384/v1

المؤلفون: Andrew Hodgdon

المصدر: Journal of Acute Care Physical Therapy. 10:15-20

مصطلحات موضوعية: Torsion dystonia, medicine.medical_specialty, Adult male, business.industry, Rehabilitation, Physical therapy, Medicine, Physical Therapy, Sports Therapy and Rehabilitation, Critical Care and Intensive Care Medicine, business, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf890b099b50c50b54c239e4edde24c4
https://doi.org/10.1097/jat.0000000000000092

المؤلفون: Katharina Leal Goto Ana Flavia Calvo, Bruna Marques Lopes, Katharina Leal Goto, Paulo Henrique Pires de Aguiar, Nilton Alves Lara Júnior, Camilla Caetano Alves da Motta, Pedro Henrique Simm Pires de Aguiar

المصدر: Revista de Medicina. 100:19-19

مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Deep brain stimulation, business.industry, medicine.medical_treatment, General Medicine, medicine.disease, Botulinum toxin, Trunk, Abnormal involuntary movement, Clonazepam, Surgery, Torsion dystonia, Subthalamic nucleus, medicine, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b84e72ee513b8222e3a2b6cd440f8b87
https://doi.org/10.11606/issn.1679-9836.v100iespp19-19

المصدر: Neuroscience and Biobehavioral Reviews. 75:22-39

مصطلحات موضوعية: Molecular pathways, PRIMARY TORSION DYSTONIA, POTASSIUM CHANNEL GENE, MACHADO-JOSEPH-DISEASE, Neurodevelopment, CENTRAL-NERVOUS-SYSTEM, DOPAMINE D1 RECEPTOR, POSITIVE MYOCLONUS-DYSTONIA, Gene network, Pathophysiology, PRIMARY CERVICAL DYSTONIA, Dystonia, DOMINANT CEREBELLAR-ATAXIA, WHITE-MATTER CHANGES, CULTURED HIPPOCAMPAL-NEURONS, Spinocerebellar ataxia, Synaptic transmission, Neurodegeneration

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dris___01423::de2ce946645aaa849729609ac5630514
https://research.rug.nl/en/publications/52e266fb-5332-417d-aabd-99c33b17108c

المؤلفون: I. A. Strokov, O. N. Voskresenskaya, A V Muranova, K Yu Kazantsev

المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 119(4)

مصطلحات موضوعية: 0301 basic medicine, Dopa-Responsive Dystonia, Pediatrics, medicine.medical_specialty, S syndrome, business.industry, Treatment options, Syndrome, medicine.disease, Torsion dystonia, Diagnosis, Differential, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Dystonic Disorders, medicine, Humans, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6403cf4f3ac8a259008d615c1ca4c43
https://pubmed.ncbi.nlm.nih.gov/31156223

المؤلفون: Kariminejad, A., Dahl-Halvarsson, Martin, Ravenscroft, G., Afroozan, F., Keshavarz, E., Goullee, H., Davis, M. R., Zonooz, M. F., Najmabadi, H., Laing, N. G., Tajsharghi, H.

المصدر: Brain. 140(11):2851-2859

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, TOR1A, endoplasmic reticulum luminal protein torsinA, DYT1 dystonia, TOR1A p.Glu303del, severe, dreifuss muscular-dystrophy, onset torsion dystonia, lamin a/c gene, nuclear-envelope, ashkenazi jews, dyt1 dystonia, mutations, protein, brain, classification, Neurosciences & Neurology

URL الوصول: https://gup.ub.gu.se/publication/260333